Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion [0.03%]
由中国ERCC8基因剪接位点同义变异和外显子1缺失引起的科凯因氏综合征病例的临床及分子遗传分析
Xiaofan Bie,Lei Liu,Lingzhi Liu et al.
Xiaofan Bie et al.
Background: Cockayne Syndrome (CS) is a rare autosomal recessive genetic disease, mainly caused by ERCC8 and ERCC6 gene defect. However, many of its molecular characteristics remain unclear. In this study, molecular genet...
Revisiting hemoglobin constant spring: molecular insights, pathophysiological mechanisms, and clinical perspectives [0.03%]
血红蛋白恒定春色的再访：分子见解、病理生理机制和临床视角
Narawich Wongkhammul,Pinyaphat Khamphikham,Supawadee Maneekesorn et al.
Narawich Wongkhammul et al.
Eduardo Brignani,María José de Castro-López,Antonio Gonzalez-Meneses et al.
Eduardo Brignani et al.
Background: Lysosomal storage disorders (LSDs) are a group of rare metabolic conditions caused by enzyme deficiencies, leading to the accumulation of macromolecules within lysosomes. These disorders significantly impact p...
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China [0.03%]
中国西南部云南省高血苯丙氨酸的发生率及其基因突变特征
Qiong Wang,Jiang Duan,Xiaolong Zhao et al.
Qiong Wang et al.
Background: The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic pro...
Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use [0.03%]
结节性硬化症相关癫痫的疾病负担：系统文献综述 Epidemiology，健康相关生活质量 Costs 和资源使用
Alexandra Furber,Alison Martin,Andrea Bertuzzi et al.
Alexandra Furber et al.
Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting in hamartomas in multiple organs, causing varied manifestations with a substantial burden of illness (BOI) for patients and caregivers. A s...
Safety and pharmacodynamics of the ferroportin inhibitor vamifeport in patients with non-transfusion-dependent β-thalassemia: results from a randomized phase 2a study [0.03%]
用于治疗非输血依赖型β-地中海贫血患者的铁转运蛋白抑制剂vamifyport的安全性和药代动力学：一项随机IIa期研究结果
Antonis Kattamis,Ali Taher,Vip Viprakasit et al.
Antonis Kattamis et al.
Background: Non-transfusion-dependent beta-thalassemia (β-NTDT) is characterized by ineffective erythropoiesis, increased intestinal iron absorption, and iron overload. The ferroportin inhibitor, vamifeport, has been sho...
Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes [0.03%]
纠正：检测表型减弱的酸性鞘磷脂酶缺乏症B型的先进策略
Thomas Villeneuve,Thibaut Jamme,Robin Schwob et al.
Thomas Villeneuve et al.
Published Erratum
Orphanet journal of rare diseases. 2025 Nov 25;20(1):604. DOI:10.1186/s13023-025-03996-7 2025
Neurocognitive function in males with 46,XX testicular difference of sex development [0.03%]
46，XX睾丸性别发育异常男性的神经认知功能障碍
Etki Albayrak Rasborg Hartogsohn,Mirkka Hiort,Julia Rohayem et al.
Etki Albayrak Rasborg Hartogsohn et al.
Background: 46,XX testicular difference of sex development (46,XX T-DSD) is a rare condition, in which individuals with a typical female chromosomal pattern (46,XX) present with a male phenotype. Although neurocognitive f...
Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study [0.03%]
遗传性球形红细胞增多症的脑血管受累：观察队列和病例对照MRI研究
Renzo Manara,Marcella Contieri,Giovanni Librizzi et al.
Renzo Manara et al.
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study [0.03%]
22q11.2缺失（DiGeorge）综合征慢性炎性关节炎的多中心研究
Emily Liebling,Caroline Freychet,Valentina Guarnieri et al.
Emily Liebling et al.
Background: 22q11 deletion syndrome (22q11DS) is a genetic disorder caused by a deletion at chromosome 22q11.2. Chronic arthritis may be occasionally observed in these, if this manifestion represents a concomitant associa...
Multicenter Study
Orphanet journal of rare diseases. 2025 Nov 24;20(1):603. DOI:10.1186/s13023-025-04088-2 2025